Search Results - Kirill V. Savostyanov

Brief Guidelines on Preparation of Manuscripts Containing Information on the Results of Molecular Genetic Research by Alexander A. Pushkov, Kirill V. Savostyanov, Alexey G. Nikitin

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Clinic Case of Rare Type VI Osteogenesis Imperfecta by Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov

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AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE by Olga A. Klochkova, Alexey L. Kurenkov, Natalya V. Zhurkova, Kirill V. Savostyanov, Ilya S. Zhanin, Ayaz M. Mamedyarov, Ilona M. Tardova

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Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case by Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova

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THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES by Nataliya A. Sdvigova, Elena N. Basargina, Dmitry V. Ryabtsev, Kirill V. Savostyanov, Alexander A. Pushkov, Natalia V. Zhurkova, Grigory V. Revunenkov, Olga P. Zharova

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22q11.2 DELETION SYNDROME: ALGORITHM FOR THE EARLY DIAGNOSIS AND TREATMENT by Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan

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22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment by Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan

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GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS by Yulia V. Gorinova, Kirill V. Savostyanov, Alexandr A. Pushkov, Alexey G. Nikitin, Evgeniy L. Pen'kov, Stanislav A. Krasovskiy, Olga I. Simonova, L. S. Namazova-Baranova

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Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case by Ivan A. Kriulin, E. I. Alexeeva, Tatyana M. Dvoryakovskaya, Bella I. Bursagova, Kirill V. Savostyanov, Natalya V. Zhurkova, Alexander A. Pushkov, Anatoli V. Anikin, Artem M. Nesterov

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EXPERIENCE OF THE SUCCESSFUL CANAKINUMAB TREATMENT OF A PATIENT WITH UNDIFFERENTIATED AUTOINFLAMMATORY SYNDROME by Tatyana V. Sleptsova, Еkaterina I. Alexeeva, Тatyana М. Bzarova, Kirill V. Savostyanov, Аlexander A. Pushkov, Kseniya B. Isaeva, Rina V. Denisova, Оlga L. Lomakina

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Homocystinuria in Children by Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina

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